[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=3216866 [NCBI, ExPASy, EBI, Israel, Japan]
Lubahn D.B.,
Joseph D.R.,
Sar M.,
Tan J.,
Higgs H.N.,
Larson R.E.,
French F.S.,
Wilson E.M.;
"The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate.";
Mol. Endocrinol. 2:1265-1275(1988).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT CAIS MET-866.
PubMed=2594783 [NCBI, ExPASy, EBI, Israel, Japan]
Lubahn D.B.,
Brown T.R.,
Simental J.A.,
Higgs H.N.,
Migeon C.J.,
Wilson E.M.,
French F.S.;
"Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.";
Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989).
|
[3]
|
NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2342476 [NCBI, ExPASy, EBI, Israel, Japan]
Govindan M.V.;
"Specific region in hormone binding domain is essential for hormone binding and trans-activation by human androgen receptor.";
Mol. Endocrinol. 4:417-427(1990).
|
[4]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Prostate;
PubMed=3174628 [NCBI, ExPASy, EBI, Israel, Japan]
Chang C.,
Kokontis J.,
Liao S.;
"Structural analysis of complementary DNA and amino acid sequences of human and rat androgen receptors.";
Proc. Natl. Acad. Sci. U.S.A. 85:7211-7215(1988).
|
[5]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Prostate;
PubMed=2911578 [NCBI, ExPASy, EBI, Israel, Japan]
Tilley W.D.,
Marcelli M.,
Wilson J.D.,
McPhaul M.J.;
"Characterization and expression of a cDNA encoding the human androgen receptor.";
Proc. Natl. Acad. Sci. U.S.A. 86:327-331(1989).
|
[6]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
TISSUE=Prostate;
PubMed=2293020 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Tilley W.D.,
Wilson C.M.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.";
Mol. Endocrinol. 4:1105-1116(1990).
|
[7]
|
NUCLEOTIDE SEQUENCE OF 1-57; 59-448 AND 457-538.
DOI=10.1016/0303-7207(89)90137-8; PubMed=2917688 [NCBI, ExPASy, EBI, Israel, Japan]
Faber P.W.,
Kuiper G.G.,
van Rooij H.C.,
van der Korput J.A.,
Brinkmann A.O.,
Trapman J.;
"The N-terminal domain of the human androgen receptor is encoded by one, large exon.";
Mol. Cell. Endocrinol. 61:257-262(1989).
|
[8]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 189-919.
PubMed=3353726 [NCBI, ExPASy, EBI, Israel, Japan]
Chang C.,
Kokontis J.,
Liao S.;
"Molecular cloning of human and rat complementary DNA encoding androgen receptors.";
Science 240:324-326(1988).
|
[9]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 468-919.
DOI=10.1016/S0006-291X(88)81214-2; PubMed=3377788 [NCBI, ExPASy, EBI, Israel, Japan]
Trapman J.,
Klaassen P.,
Kuiper G.G.J.M.,
van der Korput J.A.G.M.,
Faber P.W.,
van Rooij H.C.J.,
Geurts van Kessel A.,
Voorhorst M.M.,
Mulder E.,
Brinkmann A.O.;
"Cloning, structure and expression of a cDNA encoding the human androgen receptor.";
Biochem. Biophys. Res. Commun. 153:241-248(1988).
|
[10]
|
NUCLEOTIDE SEQUENCE OF 536-540; 587-591; 626-630; 722-726; 770-774; 814-817 AND 866-870.
PubMed=2546571 [NCBI, ExPASy, EBI, Israel, Japan]
Kuiper G.G.,
Faber P.W.,
van Rooij H.C.,
van der Korput J.A.,
Ris-Stalpers C.,
Klaassen P.,
Trapman J.,
Brinkmann A.O.;
"Structural organization of the human androgen receptor gene.";
J. Mol. Endocrinol. 2:R1-R4(1989).
|
[11]
|
NUCLEOTIDE SEQUENCE OF 559-624.
PubMed=3353727 [NCBI, ExPASy, EBI, Israel, Japan]
Lubahn D.B.,
Joseph D.R.,
Sullivan P.M.,
Willard H.F.,
French F.S.,
Wilson E.M.;
"Cloning of human androgen receptor complementary DNA and localization to the X chromosome.";
Science 240:327-330(1988).
|
[12]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 629-723, AND VARIANTS CAIS ASN-695 AND HIS-695.
PubMed=1775137 [NCBI, ExPASy, EBI, Israel, Japan]
Ris-Stalpers C.,
Trifiro M.A.,
Kuiper G.G.J.M.,
Jenster G.,
Romalo G.,
Sai T.,
van Rooij H.C.J.,
Kaufman M.,
Rosenfield R.L.,
Liao S.,
Schweikert H.-U.,
Trapman J.,
Pinsky L.,
Brinkmann A.O.;
"Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics.";
Mol. Endocrinol. 5:1562-1569(1991).
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[13]
|
POLYMORPHISM OF POLY-GLN REGION.
DOI=10.1093/nar/20.6.1427-a; PubMed=1561105 [NCBI, ExPASy, EBI, Israel, Japan]
Sleddens H.F.B.M.,
Oostra B.A.,
Brinkmann A.O.,
Trapman J.;
"Trinucleotide repeat polymorphism in the androgen receptor gene (AR).";
Nucleic Acids Res. 20:1427-1427(1992).
|
[14]
|
POLYMORPHISM OF POLY-GLY REGION.
TISSUE=Blood;
Lu J.,
Danielsen M.;
Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases.
|
[15]
|
POLYMORPHISM OF POLY-GLN REGION.
DOI=10.1073/pnas.94.7.3320; PubMed=9096391 [NCBI, ExPASy, EBI, Israel, Japan]
Giovannucci E.,
Stampfer M.J.,
Krithivas K.,
Brown M.,
Dahl D.,
Brufsky A.,
Talcott J.,
Hennekens C.H.,
Kantoff P.W.;
"The CAG repeat within the androgen receptor gene and its relationship to prostate cancer.";
Proc. Natl. Acad. Sci. U.S.A. 94:3320-3323(1997).
|
[16]
|
ERRATUM.
Giovannucci E.,
Stampfer M.J.,
Krithivas K.,
Brown M.,
Dahl D.,
Brufsky A.,
Talcott J.,
Hennekens C.H.,
Kantoff P.W.;
Proc. Natl. Acad. Sci. U.S.A. 94:8272-8272(1997).
|
[17]
|
INTERACTION WITH PQBP1.
TISSUE=Brain;
DOI=10.1093/hmg/8.6.977; PubMed=10332029 [NCBI, ExPASy, EBI, Israel, Japan]
Waragai M.,
Lammers C.-H.,
Takeuchi S.,
Imafuku I.,
Udagawa Y.,
Kanazawa I.,
Kawabata M.,
Mouradian M.M.,
Okazawa H.;
"PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival.";
Hum. Mol. Genet. 8:977-987(1999).
|
[18]
|
INTERACTION WITH TGFB1I1.
DOI=10.1074/jbc.274.12.8316; PubMed=10075738 [NCBI, ExPASy, EBI, Israel, Japan]
Fujimoto N.,
Yeh S.,
Kang H.-Y.,
Inui S.,
Chang H.-C.,
Mizokami A.,
Chang C.;
"Cloning and characterization of androgen receptor coactivator, ARA55, in human prostate.";
J. Biol. Chem. 274:8316-8321(1999).
|
[19]
|
INTERACTION WITH UBE2I.
DOI=10.1074/jbc.274.27.19441; PubMed=10383460 [NCBI, ExPASy, EBI, Israel, Japan]
Poukka H.,
Aarnisalo P.,
Karvonen U.,
Palvimo J.J.,
Jaenne O.A.;
"Ubc9 interacts with the androgen receptor and activates receptor-dependent transcription.";
J. Biol. Chem. 274:19441-19446(1999).
|
[20]
|
INTERACTION WITH RAN.
DOI=10.1074/jbc.274.29.20229; PubMed=10400640 [NCBI, ExPASy, EBI, Israel, Japan]
Hsiao P.-W.,
Lin D.-L.,
Nakao R.,
Chang C.;
"The linkage of Kennedy's neuron disease to ARA24, the first identified androgen receptor polyglutamine region-associated coactivator.";
J. Biol. Chem. 274:20229-20234(1999).
|
[21]
|
INTERACTION WITH SPDEF.
DOI=10.1074/jbc.275.2.1216; PubMed=10625666 [NCBI, ExPASy, EBI, Israel, Japan]
Oettgen P.,
Finger E.,
Sun Z.,
Akbarali Y.,
Thamrongsak U.,
Boltax J.,
Grall F.,
Dube A.,
Weiss A.,
Brown L.,
Quinn G.,
Kas K.,
Endress G.,
Kunsch C.,
Libermann T.A.;
"PDEF, a novel prostate epithelium-specific ets transcription factor, interacts with the androgen receptor and activates prostate-specific antigen gene expression.";
J. Biol. Chem. 275:1216-1225(2000).
|
[22]
|
INTERACTION WITH MYST2.
DOI=10.1074/jbc.M004838200; PubMed=10930412 [NCBI, ExPASy, EBI, Israel, Japan]
Sharma M.,
Zarnegar M.,
Li X.,
Lim B.,
Sun Z.;
"Androgen receptor interacts with a novel MYST protein, HBO1.";
J. Biol. Chem. 275:35200-35208(2000).
|
[23]
|
SUMOYLATION AT LYS-386 AND LYS-520.
DOI=10.1073/pnas.97.26.14145; PubMed=11121022 [NCBI, ExPASy, EBI, Israel, Japan]
Poukka H.,
Karvonen U.,
Jaenne O.A.,
Palvimo J.J.;
"Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).";
Proc. Natl. Acad. Sci. U.S.A. 97:14145-14150(2000).
|
[24]
|
INTERACTION WITH RANBP9.
DOI=10.1074/jbc.M209741200; PubMed=12361945 [NCBI, ExPASy, EBI, Israel, Japan]
Rao M.A.,
Cheng H.,
Quayle A.N.,
Nishitani H.,
Nelson C.C.,
Rennie P.S.;
"RanBPM, a nuclear protein that interacts with and regulates transcriptional activity of androgen receptor and glucocorticoid receptor.";
J. Biol. Chem. 277:48020-48027(2002).
|
[25]
|
INTERACTION WITH PELP1.
DOI=10.1073/pnas.192569699; PubMed=12415108 [NCBI, ExPASy, EBI, Israel, Japan]
Wong C.-W.,
McNally C.,
Nickbarg E.,
Komm B.S.,
Cheskis B.J.;
"Estrogen receptor-interacting protein that modulates its nongenomic activity-crosstalk with Src/Erk phosphorylation cascade.";
Proc. Natl. Acad. Sci. U.S.A. 99:14783-14788(2002).
|
[26]
|
INTERACTION WITH ZMIZ1.
DOI=10.1093/emboj/cdg585; PubMed=14609956 [NCBI, ExPASy, EBI, Israel, Japan]
Sharma M.,
Li X.,
Wang Y.,
Zarnegar M.,
Huang C.-Y.,
Palvimo J.J.,
Lim B.,
Sun Z.;
"hZimp10 is an androgen receptor co-activator and forms a complex with SUMO-1 at replication foci.";
EMBO J. 22:6101-6114(2003).
|
[27]
|
FUNCTION, AND INTERACTION WITH RBAK.
DOI=10.1677/jme.0.0310583; PubMed=14664718 [NCBI, ExPASy, EBI, Israel, Japan]
Hofman K.,
Swinnen J.V.,
Claessens F.,
Verhoeven G.,
Heyns W.;
"The retinoblastoma protein-associated transcription repressor RBaK interacts with the androgen receptor and enhances its transcriptional activity.";
J. Mol. Endocrinol. 31:583-596(2003).
|
[28]
|
INTERACTION WITH EFCAB6.
PubMed=12612053 [NCBI, ExPASy, EBI, Israel, Japan]
Niki T.,
Takahashi-Niki K.,
Taira T.,
Iguchi-Ariga S.M.M.,
Ariga H.;
"DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex.";
Mol. Cancer Res. 1:247-261(2003).
|
[29]
|
INTERACTION WITH ZMIZ2.
DOI=10.1210/me.2005-0097; PubMed=16051670 [NCBI, ExPASy, EBI, Israel, Japan]
Huang C.-Y.,
Beliakoff J.,
Li X.,
Lee J.,
Li X.,
Sharma M.,
Lim B.,
Sun Z.;
"hZimp7, a novel PIAS-like protein, enhances androgen receptor-mediated transcription and interacts with SWI/SNF-like BAF complexes.";
Mol. Endocrinol. 19:2915-2929(2005).
|
[30]
|
PHOSPHORYLATION AT TYR-223; TYR-267; TYR-307; TYR-346; TYR-357; TYR-362; TYR-363; TYR-393; TYR-534; TYR-551 AND TYR-915, MUTAGENESIS OF TYR-223; TYR-267; TYR-307; TYR-346; TYR-357; TYR-362; TYR-363; TYR-393; TYR-534; TYR-551 AND TYR-915, AND MASS SPECTROMETRY.
DOI=10.1016/j.ccr.2006.08.021; PubMed=17045208 [NCBI, ExPASy, EBI, Israel, Japan]
Guo Z.,
Dai B.,
Jiang T.,
Xu K.,
Xie Y.,
Kim O.,
Nesheiwat I.,
Kong X.,
Melamed J.,
Handratta V.D.,
Njar V.C.,
Brodie A.M.,
Yu L.-R.,
Veenstra T.D.,
Chen H.,
Qiu Y.;
"Regulation of androgen receptor activity by tyrosine phosphorylation.";
Cancer Cell 10:309-319(2006).
|
[31]
|
ERRATUM.
Guo Z.,
Dai B.,
Jiang T.,
Xu K.,
Xie Y.,
Kim O.,
Nesheiwat I.,
Kong X.,
Melamed J.,
Handratta V.D.,
Njar V.C.,
Brodie A.M.,
Yu L.-R.,
Veenstra T.D.,
Chen H.,
Qiu Y.;
Cancer Cell 11:97-97(2007).
|
[32]
|
INTERACTION WITH RREB1.
DOI=10.1210/me.2006-0503; PubMed=17550981 [NCBI, ExPASy, EBI, Israel, Japan]
Mukhopadhyay N.K.,
Cinar B.,
Mukhopadhyay L.,
Lutchman M.,
Ferdinand A.S.,
Kim J.,
Chung L.W.K.,
Adam R.M.,
Ray S.K.,
Leiter A.B.,
Richie J.P.,
Liu B.C.-S.,
Freeman M.R.;
"The zinc finger protein Ras-responsive element binding protein-1 is a coregulator of the androgen receptor: implications for the role of the Ras pathway in enhancing androgenic signaling in prostate cancer.";
Mol. Endocrinol. 21:2056-2070(2007).
|
[33]
|
X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 657-919.
DOI=10.1074/jbc.M004571200; PubMed=10840043 [NCBI, ExPASy, EBI, Israel, Japan]
Matias P.M.,
Donner P.,
Coelho R.,
Thomaz M.,
Peixoto C.,
Macedo S.,
Otto N.,
Joschko S.,
Scholz P.,
Wegg A.,
Basler S.,
Schafer M.,
Egner U.,
Carrondo M.A.;
"Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations.";
J. Biol. Chem. 275:26164-26171(2000).
|
[34]
|
X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 670-917.
DOI=10.1021/jm011072j; PubMed=11906285 [NCBI, ExPASy, EBI, Israel, Japan]
Matias P.M.,
Carrondo M.A.,
Coelho R.,
Thomaz M.,
Zhao X.Y.,
Wegg A.,
Crusius K.,
Egner U.,
Donner P.;
"Structural basis for the glucocorticoid response in a mutant human androgen receptor (AR(ccr)) derived from an androgen-independent prostate cancer.";
J. Med. Chem. 45:1439-1446(2002).
|
[35]
|
REVIEW ON VARIANTS.
PubMed=1458719 [NCBI, ExPASy, EBI, Israel, Japan]
Pinsky L.,
Trifiro M.A.,
Kaufman M.,
Beitel L.K.,
Mhatre A.,
Kazemi-Esfarjani P.,
Sabbaghian N.,
Lumbroso R.,
Alvarado C.,
Vasiliou M.,
Gottlieb B.;
"Androgen resistance due to mutation of the androgen receptor.";
Clin. Invest. Med. 15:456-472(1992).
|
[36]
|
REVIEW ON VARIANTS AIS.
DOI=10.1007/BF02125442; PubMed=8339746 [NCBI, ExPASy, EBI, Israel, Japan]
Brown T.R.,
Scherer P.A.,
Chang Y.-T.,
Migeon C.J.,
Ghirri P.,
Murono K.,
Zhou Z.;
"Molecular genetics of human androgen insensitivity.";
Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993).
|
[37]
|
REVIEW ON VARIANTS.
DOI=10.1016/0960-0760(93)90178-Y; PubMed=8240973 [NCBI, ExPASy, EBI, Israel, Japan]
Sultan C.,
Lumbroso S.,
Poujol N.,
Belon C.,
Boudon C.,
Lobaccaro J.-M.;
"Mutations of androgen receptor gene in androgen insensitivity syndromes.";
J. Steroid Biochem. Mol. Biol. 46:519-530(1993).
|
[38]
|
REVIEW ON VARIANTS.
PubMed=7937057 [NCBI, ExPASy, EBI, Israel, Japan]
Patterson M.N.,
Hughes I.A.,
Gottlieb B.,
Pinsky L.;
"The androgen receptor gene mutations database.";
Nucleic Acids Res. 22:3560-3562(1994).
|
[39]
|
REVIEW ON VARIANTS.
DOI=10.1016/0960-0760(95)00090-M; PubMed=7626493 [NCBI, ExPASy, EBI, Israel, Japan]
Brinkmann A.O.,
Jenster G.,
Ris-Stalpers C.,
van der Korput J.A.G.M.,
Bruggenwirth H.T.,
Boehmer A.L.M.,
Trapman J.;
"Androgen receptor mutations.";
J. Steroid Biochem. Mol. Biol. 53:443-448(1995).
|
[40]
|
REVIEW ON VARIANTS.
DOI=10.1093/nar/25.1.158; PubMed=9016528 [NCBI, ExPASy, EBI, Israel, Japan]
Gottlieb B.,
Trifiro M.A.,
Lumbroso R.,
Vasiliou D.M.,
Pinsky L.;
"The androgen receptor gene mutations database.";
Nucleic Acids Res. 25:158-162(1997).
|
[41]
|
VARIANT LNCAP ALA-877.
DOI=10.1016/S0006-291X(05)80067-1; PubMed=2260966 [NCBI, ExPASy, EBI, Israel, Japan]
Veldscholte J.,
Ris-Stalpers C.,
Kuiper G.G.J.M.,
Jenster G.,
Berrevoets C.A.,
Claassen E.,
van Rooij H.C.J.,
Trapman J.,
Brinkmann A.O.,
Mulder E.;
"A mutation in the ligand binding domain of the androgen receptor of human LNCaP cells affects steroid binding characteristics and response to anti-androgens.";
Biochem. Biophys. Res. Commun. 173:534-540(1990).
|
[42]
|
VARIANTS CAIS CYS-774; GLN-831 AND MET-866.
PubMed=2082179 [NCBI, ExPASy, EBI, Israel, Japan]
Brown T.R.,
Lubahn D.B.,
Wilson E.M.,
French F.S.,
Migeon C.J.,
Corfen J.L.;
"Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.";
Mol. Endocrinol. 4:1759-1772(1990).
|
[43]
|
VARIANT CYS-774.
PubMed=1856263 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Tilley W.D.,
Zoppi S.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg-->Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.";
J. Clin. Endocrinol. Metab. 73:318-325(1991).
|
[44]
|
VARIANT CAIS PRO-617.
PubMed=1999491 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Zoppi S.,
Grino P.B.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.";
J. Clin. Invest. 87:1123-1126(1991).
|
[45]
|
VARIANT PAIS CYS-763.
PubMed=2010552 [NCBI, ExPASy, EBI, Israel, Japan]
McPhaul M.J.,
Marcelli M.,
Tilley W.D.,
Griffin J.E.,
Isidro-Gutierrez R.F.,
Wilson J.D.;
"Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy.";
J. Clin. Invest. 87:1413-1421(1991).
|
[46]
|
POLY-GLN REGION EXPANSION, AND INVOLVEMENT IN SPINAL AND BULBAR MUSCULAR ATROPHY.
DOI=10.1038/352077a0; PubMed=2062380 [NCBI, ExPASy, EBI, Israel, Japan]
la Spada A.R.,
Wilson E.M.,
Lubahn D.B.,
Harding A.E.,
Fischbeck K.H.;
"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.";
Nature 352:77-79(1991).
|
[47]
|
VARIANTS CAIS CYS-774 AND HIS-774.
PubMed=1609793 [NCBI, ExPASy, EBI, Israel, Japan]
Prior L.,
Bordet S.,
Trifiro M.A.,
Mhatre A.,
Kaufman M.,
Pinsky L.,
Wrogemann K.,
Belsham D.D.,
Pereira F.,
Greenberg C.R.,
Trapman J.,
Brinkmann A.O.,
Chang C.,
Liao S.;
"Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.";
Am. J. Hum. Genet. 51:143-155(1992).
|
[48]
|
VARIANTS PAIS LYS-608 AND LEU-866.
PubMed=1424203 [NCBI, ExPASy, EBI, Israel, Japan]
Saunders P.T.,
Padayachi T.,
Tincello D.G.,
Shalet S.M.,
Wu F.C.;
"Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.";
Clin. Endocrinol. (Oxf.) 37:214-220(1992).
|
[49]
|
VARIANT CAIS THR-765.
PubMed=1426313 [NCBI, ExPASy, EBI, Israel, Japan]
Sweet C.R.,
Behzadian M.A.,
McDonough P.G.;
"A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome.";
Fertil. Steril. 58:703-707(1992).
|
[50]
|
VARIANT CAIS VAL-749.
DOI=10.1007/BF00220088; PubMed=1487249 [NCBI, ExPASy, EBI, Israel, Japan]
Jakubiczka S.,
Werder E.A.,
Wieacker P.;
"Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).";
Hum. Genet. 90:311-312(1992).
|
[51]
|
VARIANTS CAIS, AND VARIANTS PAIS.
DOI=10.1093/hmg/1.7.497; PubMed=1307250 [NCBI, ExPASy, EBI, Israel, Japan]
Batch J.A.,
Williams D.M.,
Davies H.R.,
Brown B.D.,
Evans B.A.J.,
Hughes I.A.,
Patterson M.N.;
"Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.";
Hum. Mol. Genet. 1:497-503(1992).
|
[52]
|
VARIANT CAIS VAL-787.
DOI=10.1210/jc.74.5.1152; PubMed=1569163 [NCBI, ExPASy, EBI, Israel, Japan]
Nakao R.,
Haji M.,
Yanase T.,
Ogo A.,
Takayanagi R.,
Katsube T.,
Fukumaki Y.,
Nawata H.;
"A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.";
J. Clin. Endocrinol. Metab. 74:1152-1157(1992).
|
[53]
|
VARIANTS CAIS ARG-741 AND CYS-834.
DOI=10.1210/jc.75.6.1474; PubMed=1464650 [NCBI, ExPASy, EBI, Israel, Japan]
Wilson C.M.,
Griffin J.E.,
Wilson J.D.,
Marcelli M.,
Zoppi S.,
McPhaul M.J.;
"Immunoreactive androgen receptor expression in subjects with androgen resistance.";
J. Clin. Endocrinol. Metab. 75:1474-1478(1992).
|
[54]
|
VARIANTS CAIS, AND VARIANTS PAIS.
PubMed=1430233 [NCBI, ExPASy, EBI, Israel, Japan]
McPhaul M.J.,
Marcelli M.,
Zoppi S.,
Wilson C.M.,
Griffin J.E.,
Wilson J.D.;
"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.";
J. Clin. Invest. 90:2097-2101(1992).
|
[55]
|
VARIANT PROSTATE CANCER ALA-877.
DOI=10.1016/0960-0760(92)90401-4; PubMed=1562539 [NCBI, ExPASy, EBI, Israel, Japan]
Veldscholte J.,
Berrevoets C.A.,
Ris-Stalpers C.,
Kuiper G.G.J.M.,
Jenster G.,
Trapman J.,
Brinkmann A.O.,
Mulder E.;
"The androgen receptor in LNCaP cells contains a mutation in the ligand binding domain which affects steroid binding characteristics and response to antiandrogens.";
J. Steroid Biochem. Mol. Biol. 41:665-669(1992).
|
[56]
|
VARIANTS CAIS TYR-559 AND ARG-576, AND VARIANTS PAIS GLY-597 AND PRO-617.
DOI=10.1210/me.6.3.409; PubMed=1316540 [NCBI, ExPASy, EBI, Israel, Japan]
Zoppi S.,
Marcelli M.,
Deslypere J.-P.,
Griffin J.E.,
Wilson J.D.,
McPhaul M.J.;
"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.";
Mol. Endocrinol. 6:409-415(1992).
|
[57]
|
VARIANTS CAIS SER-705; VAL-749; PHE-759; HIS-774; CYS-855 AND GLY-864.
DOI=10.1210/me.6.11.1909; PubMed=1480178 [NCBI, ExPASy, EBI, Israel, Japan]
De Bellis A.,
Quigley C.A.,
Cariello N.F.,
el-Awady M.K.,
Sar M.,
Lane M.V.,
Wilson E.M.,
French F.S.;
"Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.";
Mol. Endocrinol. 6:1909-1920(1992).
|
[58]
|
VARIANT PAIS/BREAST CANCER GLN-607.
DOI=10.1038/ng1092-132; PubMed=1303262 [NCBI, ExPASy, EBI, Israel, Japan]
Wooster R.,
Mangion J.,
Eeles R.,
Smith S.,
Dowsett M.,
Averill D.,
Barrett-Lee P.,
Easton D.F.,
Ponder B.A.,
Stratton M.R.;
"A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.";
Nat. Genet. 2:132-134(1992).
|
[59]
|
VARIANT MET-730.
PubMed=1631125 [NCBI, ExPASy, EBI, Israel, Japan]
Newmark J.R.,
Hardy D.O.,
Tonb D.C.,
Carter B.S.,
Epstein J.I.,
Isaacs W.B.,
Brown T.R.,
Barrack E.R.;
"Androgen receptor gene mutations in human prostate cancer.";
Proc. Natl. Acad. Sci. U.S.A. 89:6319-6323(1992).
|
[60]
|
VARIANTS ARG-205 AND ASP-793.
PubMed=8213813 [NCBI, ExPASy, EBI, Israel, Japan]
Macke J.P.,
Hu N.,
Hu S.,
Bailey M.,
King V.L.,
Brown T.,
Hamer D.,
Nathans J.;
"Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation.";
Am. J. Hum. Genet. 53:844-852(1993).
|
[61]
|
VARIANT CAIS PHE-581.
PubMed=8224266 [NCBI, ExPASy, EBI, Israel, Japan]
Lumbroso S.,
Lobaccaro J.-M.,
Belon C.,
Martin D.,
Chaussain J.-L.,
Sultan C.;
"A new mutation within the deoxyribonucleic acid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome.";
Fertil. Steril. 60:814-819(1993).
|
[62]
|
VARIANT CAIS VAL-754.
DOI=10.1093/hmg/2.7.1041; PubMed=8103398 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Lumbroso S.,
Ktari R.,
Dumas R.,
Sultan C.;
"An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome.";
Hum. Mol. Genet. 2:1041-1043(1993).
|
[63]
|
VARIANT PAIS/BREAST CANCER LYS-608.
DOI=10.1093/hmg/2.11.1799; PubMed=8281139 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Lumbroso S.,
Belon C.,
Galtier-Dereure F.,
Bringer J.,
Lesimple T.,
Namer M.,
Cutuli B.F.,
Pujol H.,
Sultan C.;
"Androgen receptor gene mutation in male breast cancer.";
Hum. Mol. Genet. 2:1799-1802(1993).
|
[64]
|
VARIANT CAIS ARG-807.
DOI=10.1093/hmg/2.11.1809; PubMed=8281140 [NCBI, ExPASy, EBI, Israel, Japan]
Adeyemo O.,
Kallio P.J.,
Palvimo J.J.,
Kontula K.,
Jaenne O.A.;
"A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.";
Hum. Mol. Genet. 2:1809-1812(1993).
|
[65]
|
VARIANT PAIS VAL-743.
DOI=10.1210/jc.77.1.103; PubMed=8325932 [NCBI, ExPASy, EBI, Israel, Japan]
Nakao R.,
Yanase T.,
Sakai Y.,
Haji M.,
Nawata H.;
"A single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.";
J. Clin. Endocrinol. Metab. 77:103-107(1993).
|
[66]
|
VARIANTS CAIS LYS-681 AND THR-842, AND VARIANTS PAIS HIS-840 AND LEU-866.
DOI=10.1210/jc.77.1.262; PubMed=8325950 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Huang Q.,
Sinnecker G.H.,
Sadeghi-Nejad A.,
Kruse K.,
Wolfe H.J.,
Yandell D.W.;
"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.";
J. Clin. Endocrinol. Metab. 77:262-266(1993).
|
[67]
|
VARIANTS PAIS HIS-855 AND MET-869.
PubMed=8097257 [NCBI, ExPASy, EBI, Israel, Japan]
Batch J.A.,
Evans B.A.J.,
Hughes I.A.,
Patterson M.N.;
"Mutations of the androgen receptor gene identified in perineal hypospadias.";
J. Med. Genet. 30:198-201(1993).
|
[68]
|
VARIANT CAIS VAL-743.
DOI=10.1016/0960-0760(93)90081-7; PubMed=8096390 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Lumbroso S.,
Berta P.,
Chaussain J.-L.,
Sultan C.;
"Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.";
J. Steroid Biochem. Mol. Biol. 44:211-216(1993).
|
[69]
|
VARIANTS PROSTATE CANCER HIS-701 AND ALA-877.
DOI=10.1016/0960-0760(93)90316-O; PubMed=8274409 [NCBI, ExPASy, EBI, Israel, Japan]
Suzuki H.,
Sato N.,
Watabe Y.,
Masai M.,
Seino S.,
Shimazaki J.;
"Androgen receptor gene mutations in human prostate cancer.";
J. Steroid Biochem. Mol. Biol. 46:759-765(1993).
|
[70]
|
VARIANT CAIS MET-866, AND VARIANT PAIS LEU-866.
DOI=10.1210/me.7.1.37; PubMed=8446106 [NCBI, ExPASy, EBI, Israel, Japan]
Kazemi-Esfarjani P.,
Beitel L.K.,
Trifiro M.A.,
Kaufman M.,
Rennie P.,
Sheppard P.,
Matusik R.,
Pinsky L.;
"Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.";
Mol. Endocrinol. 7:37-46(1993).
|
[71]
|
VARIANT CAIS HIS-615.
DOI=10.1210/me.7.7.861; PubMed=8413310 [NCBI, ExPASy, EBI, Israel, Japan]
Mowszowicz I.,
Lee H.J.,
Chen H.T.,
Mestayer C.,
Portois M.C.,
Cabrol S.,
Mauvais-Jarvis P.,
Chang C.;
"A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance.";
Mol. Endocrinol. 7:861-869(1993).
|
[72]
|
VARIANT PROSTATE CANCER MET-715.
DOI=10.1210/me.7.12.1541; PubMed=8145761 [NCBI, ExPASy, EBI, Israel, Japan]
Culig Z.,
Hobisch A.,
Cronauer M.V.,
Cato A.C.B.,
Hittmair A.,
Radmayr C.,
Eberle J.,
Bartsch G.,
Klocker H.;
"Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone.";
Mol. Endocrinol. 7:1541-1550(1993).
|
[73]
|
VARIANTS CAIS PHE-581; VAL-743; VAL-754; GLU-767 AND CYS-855.
Lobaccaro J.-M.,
Lumbroso S.,
Belon C.,
Chaussain J.L.,
Toublanc J.E.,
Leheup B.,
Sultan C.;
"Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114).";
Pediatr. Res. Suppl. 33:S22-S22(1993).
|
[74]
|
VARIANTS PROSTATE CANCER LEU-340 AND GLU-798.
PubMed=7511268 [NCBI, ExPASy, EBI, Israel, Japan]
Castagnaro M.,
Yandell D.W.,
Dockhorn-Dworniczak B.,
Wolfe H.J.,
Poremba C.;
"Androgen receptor gene mutations and p53 gene analysis in advanced prostate cancer.";
Verh. Dtsch. Ges. Pathol. 77:119-123(1993).
|
[75]
|
POLY-GLN REGION CONTRACTION, AND INVOLVEMENT IN PROSTATE CANCER.
DOI=10.1006/bbrc.1994.1011; PubMed=8292051 [NCBI, ExPASy, EBI, Israel, Japan]
Schoenberg M.P.,
Hakimi J.M.,
Wang S.,
Bova G.S.,
Epstein J.I.,
Fischbeck K.H.,
Isaacs W.B.,
Walsh P.C.,
Barrack E.R.;
"Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer.";
Biochem. Biophys. Res. Commun. 198:74-80(1994).
|
[76]
|
VARIANT PROSTATE CANCER ALA-877.
PubMed=8187068 [NCBI, ExPASy, EBI, Israel, Japan]
Gaddipati J.P.,
McLeod D.G.,
Heidenberg H.B.,
Sesterhenn I.A.,
Finger M.J.,
Moul J.W.,
Srivastava S.;
"Frequent detection of codon 877 mutation in the androgen receptor gene in advanced prostate cancers.";
Cancer Res. 54:2861-2864(1994).
|
[77]
|
VARIANT PAIS TRP-568.
PubMed=7910529 [NCBI, ExPASy, EBI, Israel, Japan]
Lobaccaro J.-M.,
Belon C.,
Lumbroso S.,
Olewniczack G.,
Carre-Pigeon F.,
Job J.C.,
Chaussain J.L.,
Toublanc J.E.,
Sultan C.;
"Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene.";
Clin. Endocrinol. (Oxf.) 40:297-302(1994).
|
[78]
|
VARIANT PAIS HIS-840.
PubMed=7909256 [NCBI, ExPASy, EBI, Israel, Japan]
Lumbroso S.,
Lobaccaro J.-M.,
Belon C.,
Amram S.,
Bachelard B.,
Garandeau P.,
Sultan C.;
"Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome).";
Eur. J. Endocrinol. 130:327-332(1994).
|
[79]
|
VARIANT PAIS HIS-840.
PubMed=8205256 [NCBI, ExPASy, EBI, Israel, Japan]
Imasaki K.,
Hasegawa T.,
Okabe T.,
Sakai Y.,
Haji M.,
Takayanagi R.,
Nawata H.;
"Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.";
Eur. J. Endocrinol. 130:569-574(1994).
|
[80]
|
VARIANT PAIS VAL-870.
DOI=10.1007/s004310050143; PubMed=8033918 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Klauber G.,
Cendron M.,
Sinnecker G.H.,
Keim L.,
Schwinger E.,
Wolfe H.J.,
Yandell D.W.;
"Molecular characterization of the androgen receptor gene in boys with hypospadias.";
Eur. J. Pediatr. 153:317-321(1994).
|
[81]
|
VARIANT PAIS ASP-690 DEL.
Schwartz M.,
Skovby F.,
Mueller J.,
Nielsen O.,
Skakkebaek N.E.;
"Partial androgen insensitivity (PAIS) in a large eskimo kindred caused by a delD690 mutation in the androgen receptor (AR) gene (Abstract #244).";
Horm. Res. 41:117-117(1994).
|
[82]
|
VARIANTS CAIS PHE-582 DEL; ARG-615 DEL AND HIS-615.
DOI=10.1093/hmg/3.1.21; PubMed=8162033 [NCBI, ExPASy, EBI, Israel, Japan]
Beitel L.K.,
Prior L.,
Vasiliou D.M.,
Gottlieb B.,
Kaufman M.,
Lumbroso R.,
Alvarado C.,
McGillivray B.,
Trifiro M.A.,
Pinsky L.;
"Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor.";
Hum. Mol. Genet. 3:21-27(1994).
|
[83]
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VARIANTS PAIS SER-582; TYR-604; ALA-708; LEU-754 AND HIS-771, AND VARIANT CAIS TRP-779.
DOI=10.1093/hmg/3.7.1163; PubMed=7981687 [NCBI, ExPASy, EBI, Israel, Japan]
Hiort O.,
Wodtke A.,
Struve D.,
Zoellner A.,
Sinnecker G.H.;
"Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis.";
Hum. Mol. Genet. 3:1163-1166(1994).
|
[84]
|
VARIANT CAIS PHE-601.
DOI=10.1093/hmg/3.7.1169; PubMed=7981689 [NCBI, ExPASy, EBI, Israel, Japan]
Baldazzi L.,
Baroncini C.,
Pirazzoli P.,
Balsamo A.,
Capelli M.,
Marchetti G.,
Bernardi F.,
Cacciari E.;
"Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor.";
Hum. Mol. Genet. 3:1169-1170(1994).
|
[85]
|
VARIANTS PAIS ARG-616; HIS-840 AND MET-889.
DOI=10.1210/jc.78.3.513; PubMed=8126121 [NCBI, ExPASy, EBI, Israel, Japan]
De Bellis A.,
Quigley C.A.,
Marschke K.B.,
el-Awady M.K.,
Lane M.V.,
Smith E.P.,
Sar M.,
Wilson E.M.,
French F.S.;
"Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.";
J. Clin. Endocrinol. Metab. 78:513-522(1994).
|
[86]
|
VARIANT MAIS PHE-790.
DOI=10.1210/jc.79.4.1202; PubMed=7962294 [NCBI, ExPASy, EBI, Israel, Japan]
Tsukada T.,
Inoue M.,
Tachibana S.,
Nakai Y.,
Takebe H.;
"An androgen receptor mutation causing androgen resistance in undervirilized male syndrome.";
J. Clin. Endocrinol. Metab. 79:1202-1207(1994).
|
[87]
|
VARIANTS PAIS CYS-840 AND HIS-840.
PubMed=8040309 [NCBI, ExPASy, EBI, Israel, Japan]
Beitel L.K.,
Kazemi-Esfarjani P.,
Kaufman M.,
Lumbroso R.,
DiGeorge A.M.,
Killinger D.W.,
Trifiro M.A.,
Pinsky L.;
"Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.";
J. Clin. Invest. 94:546-554(1994).
|
[88]
|
VARIANTS CAIS, AND VARIANTS PAIS.
PubMed=7929841 [NCBI, ExPASy, EBI, Israel, Japan]
Marcelli M.,
Zoppi S.,
Wilson C.M.,
Griffin J.E.,
McPhaul M.J.;
"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.";
J. Clin. Invest. 94:1642-1650(1994).
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[89]
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VARIANT MAIS LYS-727.
DOI=10.1016/S0140-6736(94)92385-X; PubMed=7993455 [NCBI, ExPASy, EBI, Israel, Japan]
Yong E.L.,
Ng S.C.,
Roy A.C.,
Yun G.,
Ratnam S.S.;
"Pregnancy after hormonal correction of severe spermatogenic defect du | |
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